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ALSO INSIDE:
Genetic Testing and Screening in Newborns
From Despair to Hope: My Journey with Leukemia and CAR T-Cell Therapy
HEAL CANADA DIGITAL MAGAZINE
JUNE 2025 | Issue 9
The Importance of Clinical Trials and Patient Involvement
empower, engage, and educate
Brief description of article, this should be about a sentence long.
Genetic Testing and Screening in Newborns
From Despair to Hope: My Journey with Leukemia and CAR T-Cell Therapy
A Heal Canada Digital Magazine
JUNE 2025 | Issue 9
Founders Note
PRINCIPAL TOPIC
Genetic Testing & Personalized Medicine in Canada: A Patient’s Guide for Informed Health Decisions
Health Canada’s recent approvals in 2025
CADTH/CDA call for patient input
The Importance of Clinical Trials and Patient Involvement: Shaping the Future of Medicine
MENTAL HEALTH
Reading for Well Being
That Summer Feeling...How Summer Affects Our Mental Health...
The Rise of Allergies and Stress
Daily News and how it impacts your Mental Health
SENIOR HEALTH
Starting the Conversation: When to Talk to a Parent About Moving into a Retirement Home
Joyful Aging
Genetic Testing and Screening in Newborns: Implications for Treatment in Canada
Childhood Dementia: A New Approach to 100+ Rare Genetic Neurodegenerative Conditions
Lupus Ontario Advocating for Government-Funded Vaccines for the Immunocompromised Community
Introducing the Health Advisory Network
StayWell
When Systems Fall Short, Patients Scaffold: How AI Helped Me Navigate Cancer
From Despair to Hope: My Journey with Leukemia and CAR T-Cell Therapy
LIVING WELL
The Water Myth
Soak It Up: 3 Intentional Ways to Reclaim Summer
From Whisper to Wellness: The Power of Preventive Care
The Dirty Dozen & Clean Fifteen
EDITOR: Cheryl Petruk
COPY EDITOR: PROOFREADER:
DESIGN: Richie Evans
About the Magazine (i.e. E3 Advocacy is a bimonthly patient advocacy & health magazine distrubted by Heal Canada. It has been running for X years and serves X community . . . )
ISSN 2819-2265
© 2025 E3 Advocacy Digital Magazine. All rights reserved.
No part of this publication may be reproduced, distributed, or transmitted in any form or by any means, including photocopying, recording, or other electronic or mechanical methods, without the prior written permission of the publisher, except in the case of brief quotations embodied in critical reviews and certain other noncommercial uses permitted by copyright law. For permission requests, please contact: admin@healcanada.org
E3 Advocacy is a publication of Heal Canada, supporting education, empowerment, and engagement in patient advocacy.
By Cheryl Petruk, MBA, DBA Student
The healthcare landscape in Canada is undergoing a significant transformation with the advent of personalized medicine. Central to this shift is genetic testing, which allows for the tailoring of prevention, diagnosis, and treatment strategies to the unique genetic blueprint of each individual. Unlike traditional medicine, which typically follows a one-size-fits-all approach, personalized medicine recognizes that every patient is genetically unique, and so their care should be too.
For patients, this evolution represents both hope and complexity. While genetic testing promises earlier detection, more precise treatment, and potentially improved outcomes, it also brings forward a host of considerations— ethical, financial, emotional, and practical. What does a genetic result mean? How will it impact treatment choices, lifestyle decisions, or insurance coverage? And how can Canadian patients navigate a system where access and implementation vary widely across provinces?
This article offers a comprehensive guide to
genetic testing and personalized medicine in Canada, with a focus on what patients need to know. From understanding the types of tests available, interpreting results, managing emotional and familial implications, and ensuring privacy and data security, we aim to empower patients with the knowledge and confidence to make informed health decisions.
As a patient, it is important to understand that not all genetic tests serve the same purpose. Depending on your health status, personal history, and clinical goals, your healthcare provider may recommend one of the following:
1. Diagnostic Testing: Used when symptoms arealready present, this test confirms or rules out a specific genetic condition. For example, if you have signs of breast cancer and a strong family history, a BRCA1/2 gene test may help guide your treatment.
2. Predictive Testing: This is offered to individuals who do not have symptoms but have a family history of a genetic disorder. It can help you understand your risk of developing conditions like Huntington’s disease or hereditary breast and ovarian cancer.
3. Pharmacogenetic Testing (PGx): Evaluates how your genes influence your response to medications. As a patient, knowing whether a medication is likely to work well or cause side effects can save time, improve outcomes, and reduce trial-and-error in prescriptions.
4. Carrier Screening: Tests whether you carry a gene for a genetic disorder that could be passed on to your children. This is especially relevant for individuals planning to start a family.
5. Tumor Profiling (Somatic Testing): If you have cancer, this type of test analyzes the genetic mutations within your tumor to determine which treatments may be most effective.
6. Direct-to-Consumer (DTC) Testing: Available through companies like 23andMe, these tests can provide information about ancestry and some health risks. However, they are not a substitute for clinically validated medical tests.
• Ask your healthcare provider what kind of test is appropriate for your situation.
• Understand that not all tests are equal in terms of reliability and clinical relevance.
• Ensure the test you are taking is validated and clinically actionable.
• Seek support from a genetic counselor if you are unsure about what a test result might mean.
Many patients report feeling overwhelmed when first presented with the option of genetic testing. Concerns often revolve around the impact of results on emotional well-being, family dynamics, and even future opportunities, such as employment or insurance. Despite these fears, patients who undergo testing often describe a sense of empowerment and relief in having greater clarity about their health.
Canada’s Genetic Non-Discrimination Act (GNDA) is critical for protecting patient rights. Enacted in 2017 and upheld by the Supreme Court in 2020, this legislation prohibits anyone from requiring you to take a genetic test or disclose results as a condition for obtaining goods or services, including insurance or employment. Violators can face fines or even imprisonment.
Because healthcare is a provincial responsibility, access to and funding for genetic testing differs widely:
• British Columbia: Offers publicly funded pharmacogenetic testing (e.g., Pillcheck) and supports integration into family practice.
• Ontario: Ontario Health is exploring the province- wide implementation of pharmacogenomics (PGx) testing.
• Quebec: A leader in genomic medicine, Quebec provides access through designated genetics clinics.
• Coverage and access vary—ask your provider what is available in your province.
• Some tests are only covered if you meet certain clinical criteria.
• Patients may face long wait times or need to advocate for access.
Many patients are surprised to learn that they must travel outside their region or pay out-ofpocket for tests available in other provinces. This can cause significant inequity, especially for rural, Indigenous, and lower-income populations. Patients consistently advocate for a national genomics strategy to ensure standardized, equitable access.
The decision to pursue genetic testing should never be taken lightly. Patients are encouraged to:
• Reflect on their goals (e.g., risk prevention, diagnosis, treatment selection).
• Discuss the options thoroughly with a healthcare provider.
• Consider emotional readiness for potentially life-altering information. For patients, informed decision-making is central. This means understanding the test, possible outcomes, implications, and alternatives. If you feel rushed or unclear, request additional time and information.
Pre-test counselling helps patients understand:
• Scope of Testing: What the test can and cannot reveal. For example, a negative BRCA test doesn’t mean you are risk-free; it may simply mean a mutation wasn’t detected.
• Family Implications: Genetic information is shared with family. You may feel responsible for informing relatives who may also be at risk. Privacy & Security: Understand how your data is stored, who has access to it, and whether it will be used in research.
• Emotional Preparation: Anticipate anxiety, relief, or grief. Genetic counsellors are trained to help you navigate this emotional terrain.
Results can be complex, and interpretation must occur in a clinical context:
• Positive Result: Indicates presence of a pathogenic variant. May prompt changes in treatment or screening.
• Negative Result: Indicates no known variant, but not a guarantee of no risk. Surveillance may still be warranted.
• Variants of Uncertain Significance (VUS): These are changes in DNA with unknown implications. May require periodic re-evaluation.
After testing, many patients are left wondering, “What’s next?” Here are some considerations:
• Specialist Referrals: Depending on the results, you may need to follow up with an oncologist, cardiologist, or other specialists.
• Psychological Impact: It’s normal to feel a range of emotions. Seek mental health support or join a patient group.
• Secondary Findings: Some tests may uncover unexpected information, such as predisposition to diseases not initially under consideration.
• Family Communication: Decide how and when to share information with family members. Genetic counselors can assist with this. Lifestyle Adjustments: Based on risk, some patients choose preventive surgeries, early screening, or lifestyle changes.
Data Security
Patients should be informed about:
• Storage Location: Is the data stored in Canada or internationally?
• Third-Party Access: Will insurers, employers, or researchers access it?
• Consent for Research Use: Are you comfortable with your anonymized data being used in research?
Legal Protections
The GNDA provides protection, but there are gaps:
• Life & Disability Insurance: May still be affected by genetic information. Consider obtaining coverage before testing.
• Workplace Policies: Some private employers may not be fully informed of the GNDA.
Ethical Dilemmas
• Obligation to Inform Family: Should you notify relatives if you discover a hereditary risk?
• Children and Genetic Testing: Should minors be tested for adult-onset diseases?
• Health Equity: Many new tools are less effective for non-European ancestry groups, raising ethical concerns around fairness.
Public and Private Funding
• Public Programs: Diagnostic tests for cancer or rare diseases often covered.
• PGx Testing: Covered in BC, limited in other provinces. DTC Testing: Typically outof-pocket, ranging from $200–$700.
Insurance Coverage
• Extended Health Benefits: Some plans reimburse PGx or DTC testing.
• Health Spending Accounts: May be used for test costs.
Patient Perspective
Patients often express frustration over the high cost of valuable tests not covered by provincial plans. There is a strong call for expanded coverage, especially when tests can prevent costly hospitalizations or improve treatment efficacy.
Point-of-Care Testing
Programs like the RAPID GENE study at the Ottawa Heart Institute allow for immediate genetic testing in clinical settings. For example, patients undergoing heart procedures are tested for genes that affect medication metabolism, allowing for instant adjustments.
Artificial Intelligence (AI)
AI is increasingly used to interpret genetic data, find patterns, and assist in clinical decision- making. While promising, patients should understand that algorithms are only as good as the data upon which they are built, which often excludes minority populations.
Polygenic Risk Scores
PRS aggregate small effects from many genes to provide risk estimates. Patients should ask about the accuracy of these scores in their ethnic group, as PRS are less accurate for non- European populations.
National Strategy Development
There is momentum building for a National Genomics Strategy. Patient advocacy groups are pushing for standards, consistent access, and transparency. Your voice can influence policy.
Before, during, and after testing, ask:
• What exactly is this test looking for?
• How accurate and reliable are the results?
• What will happen if something unexpected is found?
• How will this affect my treatment or medications?
• Who will have access to my genetic data?
• Will this affect my insurance?
• Should my family be tested as well?
Canadian Cancer Society: Offers tools and information about inherited cancer.
Genetics Education Canada: Patient-friendly resources about genetic conditions.
Privacy Commissioner of Canada: Learn about your rights and how your data is protected.
Canadian College of Medical Geneticists: Lists certified genetics professionals.
Provincial Health Services: Each province has its own genetic services directory.
As a patient in Canada, you are your own best advocate. Stay informed, ask questions, demand transparency, and ensure that your values guide your healthcare decisions. Genetic testing can empower you with knowledge, but only if you understand its possibilities, limitations, and implications.
In the spirit of patient-centred care, let us move forward not just with cutting-edge science but with compassion, equity, and informed consent at every step of the journey.
Cheryl A. Petruk is a multifaceted professional whose career spans patient advocacy, business, and post-secondary education, showcasing her dedication to significantly impacting these areas.
Genetic testing is no longer the domain of rare disease diagnostics or elite cancer centers. It is becoming a routine part of modern healthcare, opening doors to proactive, personalized, and precise interventions. But with this progress comes responsibility for clinicians, policymakers, and most importantly, patients.
Byline
By Dr. Christopher Labos
It is a common belief that you have to drink 68 glasses of water per day. Almost everyone has heard this recommendation at some point, although if you were to ask someone why you need to drink this much water every day, they probably wouldn’t be able to tell you. There is usually some vague idea that you need to drink water to flush toxins out of your system. Perhaps someone will suggest that drinking water is good for your kidneys since they filter the blood and regulate water balance. Unfortunately, none of these ideas is quite true, and the 6-8 glasses myth comes from a fundamental misunderstanding of some basic physiology.
Water is, of course, essential for life, and we humans cannot go very long without it. In fact, compared to most of our animal brethren, we are some of the most water-inefficient beings on the planet. The reason is that we lose quite a bit of water every day, and we have no real way to store excess water or replenish our lost reserves short of simply drinking more of it. Unlike many other animals, we cannot go long stretches without a supply of fresh drinking water.
Over the course of the day, we lose some water as water vapour from our breath, and some water is lost through sweat. These water losses are called insensible water losses because we are not aware of them, as compared to the water lost in urine.
Though many people think sweat is a consequence of exercise or of being hot, even someone living in a cold climate who is not exercising loses somewhere between 5001000 ml of free water through sweat every day. Interestingly enough, this type of sweat is almost pure water, colourless and odourless, and is mainly used by the body for temperature control by drawing heat off the skin and allowing it to dissipate into the air. The foul-smelling sweat that most people are familiar with is produced by a different type of sweat gland and is an oily substance with little water.
This water loss is essentially inevitable. You will always lose water vapour in your breath, provided you keep breathing, and you will always produce this watery-odourfree sweat even if you move to the Arctic.
Board, which recommended 2.5 litres of daily water intake. But what is generally forgotten from this recommendation is, firstly, that it was not based on any research and that, secondly, the recommendation stated that most of the water intake could come from food sources. All food has some water in it, although obviously fresh juicy fruits will have more than, say, a box of raisins. Suffice it to say that by eating regular food and having coffee, juice, or what have you, you will end up consuming 2 litres of water without having to go seek it out specifically. If you find yourself in a water deficit, your body has a very simple mechanism for letting you know. Put simply, you will get thirsty.
“If you are not thirsty, then you do not need to go out and purposefully drink 6-8 glasses of water a day, since you will probably get all the water in your regular diet.”
Of course, if you move to the tropics, you will produce much more sweat to compensate for the extra heat. But all told, roughly 1.5-2 litres of water loss are obligatory losses that we cannot do anything about. Those who exercise, live in hot climates or have a fever will obviously lose more water because of more sweating. Thus, a human being needs to replenish the roughly 2 litres of water they lose every day from sweating, breathing, and urination. The actual notion of 8 glasses a day originates from a 1945 US Food and Nutrition
If you are thirsty, drink water. If you are not thirsty, then you do not need to go out and purposefully drink 6-8 glasses of water a day, since you will probably get all the water in your regular diet. One important caveat to remember, though, is that on hot summer days, your water losses from sweating go up, and if you plan to spend some time outdoors, having water with you is important to avoid dehydration and heat stroke. While the thirst reflex is pretty reliable, it does tend to fade with age, and older people are more likely to become dehydrated without realizing it. Thus, the takehome message is to drink water when you are thirsty, but on very hot days, it might not be a bad idea to stay ahead of the curve and keep hydrated.
Drinking more water than necessary is not particularly dangerous. Drink more water, and you will simply get rid of it in your urine. In fact, the main function of your kidneys is to
make sure that water losses equal water intake. If they don’t and if water intake exceeds water loss, then you will start retaining water, and every day you will accumulate more and more until you start to see swelling in your legs (gravity drags water downwards, which is why your feet swell first). This is the problem people with heart failure and kidney disease experience; they accumulate water because they cannot excrete it from their bodies. Thus, while drinking excess water is unlikely to cause any major problems, there are some patients who will likely be told by their physicians to restrict water intake because of their heart or kidney disease.
There is no real advantage to drinking more water. Some people believe that drinking more water helps flush out toxins or helps your kidneys in some way, but that is actually not true. Your kidney filters about 180 litres of blood every day. Given that you have about 5 litres of blood inside you at any given moment, your kidney filters the equivalent of your blood volume 36 times per day. Any excess water you drink is a drop in the metaphorical bucket and shouldn’t make a difference.
But you don’t have to take my word for it. A recent study in the Journal of the American Medical Association tested this very question. Researchers randomized 631 patients with kidney disease into a hydration group that was encouraged to drink more water and a control group that was told to maintain their current habits. In the end, drinking more water did not offer up any benefit in terms of kidney function.
There is a common notion out there that water, given that it is so critical for life, must be able to prevent disease. Sadly, drinking more than the necessary daily amount will not flush toxins out of your system, nor will it help your kidneys. The only change you will see is that your urine goes from yellow to clear, which
actually has no medical implications for your health. So, you don’t have to waste any energy worrying about getting your 6-8 glasses of water a day. You have been unconsciously doing it every day of your life.
This article was originally published by the McGill Office for Science and Society and appears on E3 Advocacy with the kind permission of Dr. Christopher Labos and the McGill OSS.
Dr. Christopher Labos is a cardiologist with a degree in epidemiology who devotes much of his time to pursuits of research, teaching, and podcasting. For more information, visit the Office for Science and Society